Canonical Allele Identifier: PA2580055778
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 851793
ClinVar RCV Id: RCV001056264

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Met212Ile
CA382896764
NM_000190.4:c.636G>A
CA382896766
NM_000190.4:c.636G>T
CA382896770
NM_000190.4:c.636G>C